biostudies-literatureUnknown11(1)Mathieu HFonds de Recherche du Québec - SantéSt. George’s University of LondonYves Cotrel FoundationMarfan trust, United KingdomScoliosis Research SocietyCHU Sainte Justine FoundationRéseau de Recherche en Santé Buccodentaire et OsseuseIdiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (TTLL11) within that locus, as the IS causative gene in this British family. Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at tScientific reports11026https://www.ebi.ac.uk/biostudies/studies/S-EPMC8155187biostudies-literatureGenetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.PMC8155187Mathieu HMoldovan FOcaka LAragon-Martin JASimpson MChild APatten SAfalseGenetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (TTLL11) within that locus, as the IS causative gene in this British family. Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at t2021-01-01T00:00:00Z2021 May2026-05-08T09:42:31.404Z2022-02-10T12:25:22.783ZS-EPMC81551873404002110.1038/s41598-021-90155-0